congenital muscular dystrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A muscular dystrophy that is an autosomal recessive disorder present at birth, which may result in contractures, scoliosis, respiratory and swallowing difficulties, and foot deformities. (Human Disease Ontology, DOID_0050557)
External Link
Similar Terms
Downloads & Tools


4 genes associated with the congenital muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
FKRP fukutin related protein
FKTN fukutin
LAMA2 laminin, alpha 2
POMT1 protein-O-mannosyltransferase 1